Canonical Allele Identifier: CA514812708

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019811C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623805C>T , CM000684.2:g.42623805C>T	GRCh38
NC_000022.10:g.43019811C>T , CM000684.1:g.43019811C>T	GRCh37
NC_000022.9:g.41349755C>T	NCBI36
NG_012194.1:g.30595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.849G>A	ENSP00000354468.5:p.Leu283=
ENST00000402438.6:c.648G>A	ENSP00000385679.1:p.Leu216=
ENST00000407332.6:c.735G>A	ENSP00000384457.2:p.Leu245=
ENST00000407623.8:c.648G>A	ENSP00000384834.3:p.Leu216=
ENST00000617178.5:c.254G>A
ENST00000684963.1:n.2457G>A
ENST00000685184.1:n.309G>A
ENST00000686523.1:c.*666G>A	ENSP00000508940.1:n.*666G>A
ENST00000687183.1:n.993G>A
ENST00000687198.1:c.648G>A	ENSP00000508492.1:p.Leu216=
ENST00000688117.1:c.816G>A	ENSP00000509015.1:p.Leu272=
ENST00000688244.1:c.417G>A	ENSP00000510355.1:p.Leu139=
ENST00000689001.1:n.1339G>A
ENST00000689195.1:c.633G>A	ENSP00000509895.1:p.Leu211=
ENST00000689239.1:n.884G>A
ENST00000689795.1:n.978G>A
ENST00000690835.1:c.*96G>A	ENSP00000509038.1:n.*96G>A
ENST00000690993.1:n.1472G>A
ENST00000691295.1:c.*200G>A	ENSP00000508706.1:n.*200G>A
ENST00000691918.1:c.1007G>A	ENSP00000509525.1:n.1007G>A
ENST00000692152.1:c.648G>A	ENSP00000509317.1:p.Leu216=
ENST00000692344.1:n.1204G>A
ENST00000693363.1:c.759G>A	ENSP00000510411.1:p.Leu253=
ENST00000693367.1:c.717G>A	ENSP00000508815.1:p.Leu239=
ENST00000693639.1:c.710G>A	ENSP00000510223.1:n.710G>A
ENST00000693646.1:c.623G>A	ENSP00000508449.1:n.623G>A
ENST00000352397.10:c.717G>A MANE Select	ENSP00000338461.6:p.Leu239=
ENST00000352397.9:c.717G>A	ENSP00000338461.6:p.Leu239=
ENST00000361740.8:c.816G>A	ENSP00000354468.4:p.Leu272=
ENST00000402438.5:c.648G>A	ENSP00000385679.1:p.Leu216=
ENST00000407332.5:c.648G>A	ENSP00000384457.1:p.Leu216=
ENST00000407623.7:c.648G>A	ENSP00000384834.3:p.Leu216=
ENST00000470741.1:n.2851G>A
NM_000398.6:c.717G>A	NP_000389.1:p.Leu239=
NM_001129819.2:c.648G>A	NP_001123291.1:p.Leu216=
NM_001171660.1:c.816G>A	NP_001165131.1:p.Leu272=
NM_001171661.1:c.648G>A	NP_001165132.1:p.Leu216=
NM_007326.4:c.648G>A	NP_015565.1:p.Leu216=
NM_000398.7:c.717G>A MANE Select	NP_000389.1:p.Leu239=
NM_001171660.2:c.816G>A	NP_001165131.1:p.Leu272=